CLN5

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Ceroid-lipofuscinosis, neuronal 5
Identifiers
Symbols CLN5 ; NCL
External IDs OMIM608102 MGI2442253 HomoloGene4738 GeneCards: CLN5 Gene
RNA expression pattern
PBB GE CLN5 204084 s at tn.png
PBB GE CLN5 204085 s at tn.png
PBB GE CLN5 214252 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1203 211286
Ensembl ENSG00000102805 ENSMUSG00000022125
UniProt O75503 Q3UMW8
RefSeq (mRNA) NM_006493 NM_001033242
RefSeq (protein) NP_006484 NP_001028414
Location (UCSC) Chr 13:
77.56 – 77.58 Mb
Chr 14:
103.07 – 103.08 Mb
PubMed search [1] [2]

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.[1][2][3]

The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky-Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM][3]

References[edit]

  1. ^ Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (Oct 1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet 55 (4): 695–701. PMC 1918303. PMID 7942847. 
  2. ^ Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin K, Palotie A, Peltonen L (Sep 1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics 35 (1): 71–8. doi:10.1006/geno.1996.0324. PMID 8661106. 
  3. ^ a b "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". 

External links[edit]

Further reading[edit]